Korean Journal of Head & Neck Oncology (대한두경부종양학회지)

The Korean Society for Head and Neck Oncology (대한두경부종양학회)
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RET Proto-Oncogene Mutation in Medullary Thyroid Carcinoma

갑상선 수질암 조직에서 RET 원암유전자의 돌연변이 양상

  • Chung Woong-Youn (Department of Surgery, College of Medicine, Yonsei University) ;
  • Song Hyeun-Jung (Department of Surgery, College of Medicine, Yonsei University) ;
  • Cho Nam-Hoon (Department of Pathology, College of Medicine, Yonsei University) ;
  • Park Cheong-Soo (Department of Surgery, College of Medicine, Yonsei University)
  • 정웅윤 (연세대학교 의과대학 외과학교실) ;
  • 송현정 (연세대학교 의과대학 외과학교실) ;
  • 조남훈 (연세대학교 의과대학 병리학교실) ;
  • 박정수 (연세대학교 의과대학 외과학교실)
  • Published : 2002.05.01
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Abstract

Background: The molecular pathogenesis of hereditary medullary thyroid carcinoma is well known to be associated with germ-line mutation in the RET proto-oncogene and sporadic medullary thyroid carcinoma has been shown to carry somatic RET mutation especially in exon 13 and 16. The aim of this study is to evaluate the genetic background in the pathogenesis of the sporadic medullary thyroid carcinoma which shows extremely high incidence in Korea. Materials and Methods: Direct DNA sequencing for RET exon 13 and 16, as well as immunohistochemistrical assay for a monoclonal RET antibody were performed from 20 cases of archival tissues of medullary thyroid carcinoma. Results: Monoclonal RET antibody with C-terminal epitope showed comparatively stronger expression in tumor cells than in normal tissues and immunoreactive area in the tumor was $66.0{\pm}40.1%$. Direct sequencing of RET exon 13 revealed 4 cases of mis-sense mutations in Codon 778, Codon 767, and both in Codon 768 and 778. One case showed a silent mutation (ACG-ACT) in RET exon 16 (Codon 926). Conclusions: The strong RET immunoreactivity of medullary thyroid carcinoma may suggest that there could be a genetic alteration in oncoprotein level. RET proto-oncogene mutation may be involved in the evolutional process of medullary thyroid carcinoma in the aspect of molecular basis.

Keywords

References

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